Joubert Syndrome-

When my little one was 5 weeks old she was taken into hospital, as she was "failing" to thrive, she just simply could not put weight on, it used to take me an hour sometimes and hour and a half to get 1oz of milk into her and more often than not she would then be a little bit sick afterwards.  In hospital they ran numerous tests, first they thought she had a tumour in her tummy, so she had bloods done and an x-ray of her tummy - they found nothing except that she was suffering gastro-oesophageal reflux.

Then they noticed that she was breathing erratically so they suspected a tumour in her lungs, again more bloods and another x-ray of her chest this time - again they found nothing.

They ran numerous test, they had samples of every type of secretion possible, everything came back negative.

Then they noticed that her skin was mottled and they suspected meningitis, my poor baby girl had to go through a lumbar puncture and they wouldn't let us with her, by now my sister was heavily pregnant so I took the decision to "bar" everyone from visiting just in case Neve had meningitis I wasn't prepared to risk infecting my whole family.  However yet again the results came back as negative, by now we had been in hospital for a little over a week and I was starting to think that there was something seriously seriously wrong with my baby.

The doctors ran test after test after test, everything coming back as negative it seemed like my baby had a list of problems but no-one could find the cause were all her health issues linked?  Finally it was decided that a CT scan was a last test to find if there was anything wrong with her brain. Well the CT scan showed an "abnormality" so we were sent to a larger hospital specialising in neurological disorders for an MRI scan.  I have never felt so helpless as I did that day watching my, now 8 week old, baby lying on the MRI bed weighted down with huge bean bag type things to keep her still and being pushed into what essentially looked like a HUGE polo mint. Results would be given to us two or three days later according to the MRI person.

The very next day the neuro doctor arrived in our room along with FIVE other doctors (and not junior doctors I mean doctors who were probably one exam away from being consultants) working within the NHS I knew that this was highly irregular and that I was about to be given news and I knew that it wasn't going to be easy news to swallow, I had a sinking feeling in my stomach.

 I will never forget that day, I still remember the book I was reading, I remember the joggers I had on,  I remember the ward and the room in the ward even down to the stupid little clowns on the curtains.  This was were our Joubert Syndrome Life and journey began.

If you would like to know more about JS please follow the links below

http://www.jsuk.org/   - UK based
http://www.joubertfoundation.com/   - USA based